Varaico: Literature-Extracted Genetic Variants

SIAE

47 papers

RefSeq Summary

This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript varian...

Pfam Domains

SASAaa 117–377UCSCCarbohydrate esterase, sialic acid-specific acetylesterase

SIAE_Caa 410–510UCSCSialate O-acetylesterase C-terminal domain

Gene Aliases

HGNC Name

sialic acid acetylesterase

HGNC Previous Symbol

YSG2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_170601.5

p.I211I

c.633C>T

Surrounding Variants

3 papers

NM_170601.5

p.G212R

c.634G>C

3 papers

NM_170601.5

p.G212R

c.634G>A

1 paper

NM_170601.5

p.I211_G212insG

c.631_635ins3

1 paper

NM_170601.5

p.P210L

c.629C>T

1 paper

NM_170601.5

p.T206I

c.617C>T

1 paper

NM_170601.5

p.G220R

c.658G>C

1 paper

NM_170601.5

p.G220R

c.658G>A

1 paper

NM_170601.5

p.R201H

c.602G>A

1 paper

NM_170601.5

p.R201C

c.601C>T

2 papers

NM_170601.5

p.F199C

c.596T>G

1 paper

NM_170601.5

p.W226L

c.677G>T

5 papers

NM_170601.5

p.C196F

c.587G>T